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News Archive 4 - January 3, 2008 through August 29, 2008

By MICHELINE LONG
Published: August 29, 2008

NEWS BULLETIN: FDA ALERT

RISK OF RARE CONDITION OF MUSCLE INJURY WHEN AMIODARONE USED WITH SIMVASTATIN

On August 8, 2008, the FDA put out an alert to healthcare professionals who prescribe simvastatin or simvastatin-containing medications (Simcor, Zocor, Vytorin). The alert warned that healthcare professionals "should be aware that patients taking amiodarone should not take more than 20 mg per day of simvastatin" and that "doses higher than 20 mg each day increase the risk of rhabdomyolysis, a rare condition of muscle injury."

The FDA alert also includes the following information:

"All patients, starting therapy with simvastatin or whose dose of simvastatin is being increased, should be advised of the risk of rhabdomyolysis and told to report promptly any unexplained muscle pain, tenderness or weakness."

and

"Rhabdomyolysis has been reported with all statins. Predisposing risk factors for rhabdomyolysis include advanced age (>65 years), uncontrolled hypothyroidism, and renal impairment."

By MICHELINE LONG
Published: August 7, 2008

READER RESPONSE:

CONCLUSION: SPORTS PARTICIPATION AT ANY LEVEL IN PATIENTS WITH ARVD IS ASSOCIATED WITH HIGHER ARRHYTHMIC BURDEN

Recently our site placed a new page entitled, "A SERIOUS CONCERN: Strenuous or Competitive Exercise and ARVD." In response to the discussion in that article, we have heard from Adam S. Budzikowski, M.D., PhD., Assistant Professor of Medicine-Cardiology, State University of New York.

Lead author of the document entitled, Sports participation carries high arrhythmic risk in patients with Arrhythmogenic Right Ventricular Dysplasia (ARVD),¹ Dr. Budzikowski informed us of the study about which the document was written. Additionally, he mentioned presenting data from the North American ARVD registry which sheds some light on arrhythmic events in patients with ARVD. The data was presented at the International Congress of New Frontiers of Sports Arrhythmology which was held September 21-23rd, 2007, in Levico Terme, Italy.

The abstract of the above mentioned document, as well as the figure to which the abstract links were provided to us by Dr. Budzikowski:

"Prior reports in the literature have indicated that sports participation may have association with the onset of ARVD. In this study we sought association between sports participation and arrhythmic events in patients with ARVD. We analyzed 101 patients from the North American ARVD registry looking at prior arrhythmic events, arrhythmia inducibility during programmed electrical stimulation (PES), further arrhythmic events judged by appropriate defibrillator therapy. The level of sports participation was stratified as competitive (COM), recreational (REC) and inactive (IN).

Patients who participated prior to diagnosis in competitive or recreational activity had more arrhythmic events by the time of diagnosis (97 and 81% respectively) than those who were inactive (56% p=0.001). Competitive and recreational sports participation was also associated with a higher frequency of inducibility of ventricular arrhythmias during PES (64 and 25% competitive and recreational respectively vs inactive 13% p<0.001). Only COM had a higher cumulative frequency of further arrhythmic events (Fig 1). We conclude therefore that sports participation at any level in patients with ARVD is associated with higher arrhythmic burden."

¹Sports participation carries high arrhythmic risk in patients with Arrhythmogenic Right Ventricular Dysplasia (ARVD), (Adam S. Budzikowski, MD, PhD[1], James P. Daubert, MD[1], Scott McNitt, BS[1], Wojciech Zareba, MD, PhD[1], Mark Estes III, MD[2], Hugh Calkins, MD[3], Frank I Marcus, M.D.[4], [1]University of Rochester Medical Center, Rochester, NY USA; [2]Tufts New England Medical Center, Boston, MA, USA; [3]Johns Hopkins Hospital, Baltimore, MD [4]University of Arizona, Tucson, AZ, USA.)

By MICHELINE LONG
Published: March 1, 2008

BREAKING NEWS:

ANOTHER ARVD GENE MUTATION HAS BEEN IDENTIFIED

Families affected by ARVD5, a great many of whom live in Newfoundland, have had their ARVD gene mutation identified. The word is that a clinical test for the TMEM43 gene mutation is not yet available, but one appears to be imminent. In the meanwhile, a large number of people who participated in one ARVD study have already been tested for the TMEM43 gene mutation through research.

A Globe and Mail news update written by Carolyn Abraham, published on February 28, 2008, and entitled Science lifts veil on deadly Nfld. curse reads:

"For 12 years researchers have hunted the culprit gene behind the scourge that can stop hearts without warning. But that search is over.

In a discovery that is already saving lives and soothing minds, researchers with Memorial University in St. John's have at last identified the precise genetic glitch responsible for centuries of heartbreak on 'The Rock.'"

"'It's the first time this gene has been associated with a human disease,' said Dr. Young, a native Newfoundlander who left the University of Washington to head the gene hunt at MUN. (Dr. Young noted that the discovery marks the first time a gene behind a disorder that afflicts Newfoundlanders in high numbers has been found in Newfoundland. The province has long been a magnet for international gene hunters due to its small-founding population and "usually the samples are shipped off" she said.) Researchers found the gene in a study of 15 affected families with a total 257 members. More than half of those affected by the disorder -- or 144 people -- all carried the same mutation in a gene known as TMEM43. The mutation, said Dr. Young, involves just a single chemical change in the code. The 'typo' was not seen in any control subjects, or in the unaffected family members."

The journal article's first authors are Nancy D. Merner and Kathy A. Hodgkinson who have been mentioned as contributing equally to the text. Other contributing authors are Annika F.M. Haywood, Sean Connors, Vanessa M. French, Jörg-Detlef Drenckhahn, Christine Kupprion, Kalina Ramadanova, Ludwig Thierfelder, William McKenna, Barry Gallagher, Lynn Morris-Larkin, Anne S. Bassett, Patrick S. Parfrey, and Terry-Lynn Young.

Kathy Hodgkinson is a genetic counsellor/researcher working in the Division of Genetics at the Health Sciences Centre at St. John's Newfoundland and Labrador. On April 26, 2003, Ms. Hodgkinson was a guest speaker at the annual Johns Hopkins ARVD Family Seminar. At that time, she spoke about the "Newfoundland Experience with ARVD." A news article detailing her 2003 discussion noted:

"Once a mutation for ARVC is defined a 100% DNA test result will be available."

"'This has caused massive young deaths across the generations... the stories have been recorded in the family bibles,' said Kathy Hodgkinson... 'The first symptom is often death,' said Ms. Hodgkinson, the genetic counsellor who spent a dozen years tracking affected families, their tragic histories and collecting their DNA."

"'Suddenly they faint and they don't get up,' says Dr. Terry-Lynn Young, who leads the team that has identified the gene after a 12–year quest."

It is encouraging to learn that ARVD affected Newfoundlanders, peoples of countries from which Newfoundlanders originally migrated (England, Scotland and Ireland), and peoples in countries to which Newfoundlanders have relocated have greater hope. Soon clinically available genetic testing for the TMEM43 gene mutation will be available.

Thanks to Crystal Tichnell of the Johns Hopkins ARVD project for notifying us of this new discovery and pointing us in the direction of information. Above all, thanks to the willing ARVD affected families and the diligent researchers. It was their cooperation and hard work that culminated in this scientific breakthrough.

By MICHELINE LONG
Published: January 18, 2008

FUND RAISING EVENT:

3RD ANNUAL BULL & OYSTER ROAST FUND RAISER

If you go to www.HealingHeartsMD.org you will read:

"Healing Hearts was established in 2005 in memory of Bonnie Milner, whose life was tragically cut short just 2 weeks after her 26th birthday. The cause of her death was a rare congenital heart disease called Arrythmogenic Right Ventricular Dysplasia (ARVD)."

This year the 3rd Annual Bull & Oyster Roast will be held on Friday, February 15, 2008 at Michaels Eighth Avenue in Glen Burnie, MD. The evening includes dinner, dancing, and a silent auction. There will be a raffle and prizes, with a $1000.00 grand prize. You can read more about the event by clicking this link.

By CRYSTAL TICHNELL
Published: January 3, 2008

ANNOUNCEMENT:

JOHNS HOPKINS ARVD SEMINAR

The ARVD Program at Johns Hopkins invites you to attend the ninth annual ARVD Family Seminar on Saturday, May 3rd at Johns Hopkins Hospital in Baltimore, Maryland. We are especially pleased to have two guest speakers joining us this year: Richard Hauer, MD will describe his experience with ARVD/C in the Netherlands and Samuel Sears, PhD will present on the Psychosocial Challenges for ICD Patients. You can read more by clicking this link.

Editor's note: Going to the Johns Hopkins Family Seminar has proven to be of great value to many ARVD patients and/or family members from acrossed the U.S. and the world. Members of the International ARVD Family Support Network who have attended report excellent experiences. Additionally, they have found it a valuable time to enjoy meals and meetings with their friends from the support group, while inviting new acquaintances to join along and/or join the group. The JH Family Seminar has become a scheduled yearly event for many.